Galactosemia como causa de ictericia neonatal

Publicado

2014-04-01

Neonatal jaundice caused by galactosemia

Palabras clave:

Ictericia, Recién Nacido, Catarata, Galactosemias (es)
Jaundice, Infant, Newborn, Cataract, Galactosemias (en)

Descargas

PDF
HTML

Autores/as

Mery Yolanda Cifuentes-Cifuentes División de Neonatología. Departamento de Pediatría. Facultad de Medicina. Universidad Nacional de Colombia. Bogotá, Colombia. Instituto Materno Infantil. Hospital La Victoria. Bogotá, Colombia.
Antonio Estrada-Vizcaíno Instituto Materno Infantil. Hospital La Victoria. Bogotá, Colombia.
Rosa Romero C. Servicio de Genética. Hospital La Victoria. Bogotá, Colombia.

Resumen (es)
Resumen (en)

La ictericia es un problema muy frecuente en las unidades de recién nacidos. En este documento se presenta el caso de un neonato que cursó con hiperbilirrubinemia, inicialmente con predominio de la bilirrubina indirecta y posteriormente con anemia, hepatomegalia, aumento de la bilirrubina directa, alteración de la función hepática, disfunción tubular renal, cataratas y lesiones en la sustancia blanca del SNC.

Se descartaron diversas causas de hiperbilirrubinemia directa en el neonato. Se encontró positiva una prueba de azúcares reductores en orina que resultó ser galactosa en la cromatografía en capa fina. Se documentó marcada reducción de la actividad enzimática de galactosa uridil transferasa, con lo cual se confirmó el diagnóstico de galactosemia. Se suspendió la alimentación con leche materna, se inició leche de soya con resolución del cuadro clínico.

Jaundice is a commonly occurring problem in hospitals' neonatal units. This report describes a newborn with hypefbilirrubinaemia; the clinical picture was initially dominated by the unconjugated bilirubin fraction and later by anaemia, hepatomegaly, increased conjugated bilirubin fraction, impaired liver function, renal tubular dysfunction, cataracts and injury to CNS white matter. Various causes of direct hyperbilirrubinaemia in the newborn were ruled out. Thin-layer chromatography revealed urine-reducing substances (i.e. galactose). A marked reduction in galactose uridyl transferaseactivity was documented, thereby confirming a diagnosis of galactosaemia. Breastfeedingwas discontinued and soy milk started which led to the symptoms becoming resolved.

Descargas

Los datos de descargas todavía no están disponibles.

Citas

Kaplan M, Muraca M, Hammerman C, Rubaltelli F, Vilei MT, Vreman HJ, Stevenson DK Imbalance between production and conjugation of bilirubin: a fundamental concept in the mechanism of neonatal jaundice. Pediatrics. 2002;110:e47.

Porter ML, Dennis BL. Hyperbilirubinemia in the term newborn. Am Fam Physician. 2002;65:599-606.

Abdel Fattah M, Abdel Ghany E, Adel A, Mosallam D, Kamal S. Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. J Pediatr Hematol Oncol. 2010;27:262-71.

Cifuentes Y, Arteaga C, Bermúdez M, Quintero L. Ictericia e hipoglicemia neonatal: un caso de galactosemia. MEDICAS UIS. 2002;16:30-2.

Woo HC, Phornphutkul C, Laptook AR. Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia. J Perinatol. 2010;30:295-7.

Cifuentes Y, Bermúdez M. Aciduria piroglutámica en un neonato con anemia hemolítica. rev.fac.med. 2000;48:195-8.

Baldellou Vásquez A, García Jiménez MC. Errores congénitos del metabolismo de la galactosa. En Sanjurjo P, Baldellou A (Eds). Diagnóstico y tratamiento de las enfermedades metabó-licas hereditarias. Madrid: Editorial Ergon; 2010:399-409.

Kwon C, Farrell PM. The magnitude and challenge of falsepositive newborn screening test results. Arch Pediatr Adolesc Med. 2000;154:714-8.

Cheung KL, Tang NL, Hsiao KJ, Law LK, Wong W, Ng PC, et al. Classical galactosaemia in Chinese: A case report and review of disease incidence. J Paediatr Child Health. 1999;35:399-400.

Schulpis K, Papakonstantinou ED, Michelakakis H, Pods-karbi T, Patsouras A, Shin Y. Screening for galactosaemia in Greece. Paediatr Perinat Epidemiol. 1997;11:436-40.

Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur J Pediatr. 2003;162:S50-3.

Shah V, Friedman S, Moore AM, Platt BA, Feigenbaum ASJ. Selective screening for neonatal galactosemia: an alternative approach. Acta Paediatr. 2001;90:948-9.

Schuster V, Podskarbi T, Ottensmeier H, Haubner M, Shin YS. Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyl-transferase gene in a Turkish family with classical galactosemia. J Mol Med (Berl). 1998;76:715-9.

Holton JB, Walter JH, Tyfield LA. Galactosemia. En Scriver CH, Beaudet A, Valle D, Sly W (Eds). The metabolic and molecular bases of inherited disease. New York, London: Mac Graw Hill Inc; 2001:1553-87.

Scheibenreiter S, Knoll E, Widhalm K Long-term results in children with classical galactosemia. Wien Klin Wochenschr. 1992;104:514-7.

Kumar M, Yachha SK, Gupta RK Neonatal cholestasis syndrome due to galactosemia. Indian J Gastroenterol. 1996;15:26-7.

Janaud JC, Ropert JC, Choulot JJ, Becart E, Dehan M, Gabilan JC. Congenital galactosemia detected by severe Escherichia coli infections. Arch Fr Pediatr. 1979;36:508-11.

Rathi N, Rathi A. Galactosemia presenting as recurrent sepsis. J Trop Pediatr. 2011;57:487-9.

Kobayashi RH, Kettelhut BV, Kobayashi AL. Galactose inhibition of neonatal neutrophil function. Pediatr Infect Dis. 1983;2:442-5.

Verma S, Bharti B, Inusha P. Association of Fungal Sepsis and Galactosemia. Indian J Pediatr. 2010;77:695-6.

Shah PA, Kuchhai FA. Galactosemia with Chorea -An unusual presentation. Indian J Pediatr. 2009;76:97-8.

Zenciroglu A, Ipek MS, Aydin M, Kara A, Okumus N, Kilic M. Purpura fulminans in a newborn infant with galactosemia. Eur J Pediatr. 2010;169:903-6.

Marcoux MO, Laporte-Turpin E, Alberge C, Fournie-Gardini E, Castex MP, Rolland M et al. Congenital galacto-saemia: an unusual presentation. Arch Pediatr. 2005;12:160-2.

Levy HL, Brown AE, Williams SE, de Juan E Jr. Vitreous hemorrhage as an ophthalmic complication of galactosemia. J Pediatr. 1996;129:922-5.

Berry GT. Galactosemia: When is it a newborn screening emergency? Mol Genet Metab. 2012;106:7-11.

Otaduy MC, Leite CC, Lacerda MT, Costa MO, Arita F, Prado E, Rosemberg S. Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment. AJNR Am J Neuroradiol. 2006;27:204-7.

Berry GT, Hunter JV, Wang Z, Dreha S, Mazur A, Brooks DG, et al. In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. J Pediatr. 2001;138:260-2.

Jakobs C, Kleijer WJ, Allen J, Holton JB. Prenatal diagnosis of galactosemia. Eur J Pediatr. 1995;154:S33-6.

Holton JB. Effects of galactosemia in utero. Eur J Pedia-tr. 1995;154:S77-81.

Jumbo-Lucioni P, Garber K, Kiel J, Baric I, Berry GT, Bosch A, et al. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012;35:1037-49.

Schadewaldt P, Hoffmann B, Hammen HW, Kamp G, Schweitzer-Krantz S, Wendel U. Longitudinal assessment of intellectual achievement in patients with classical galactosemia. Pediatrics. 2010;125:e374-81.

Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis. 2006;29:516-25.

Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998;102:E69.

Gutiérrez García E, Barrios García B, Carrillo Estrada U, Lantigua Cruz A. Galactosemia: diagnóstico de 5 casos con deficiencia de transferasa. Rev Cubana Pediatr. 2001;73:75-80.

Henderson H, Leisegang F, Brown R, Eley B. The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. BMC Pediatr. 2002;2:7.

Cornejo V, Raiman E. Alteración del metabolismo de la galactosa. Rev Chil Nutr [internet]. 2004;31(Suppl. 1):170-6. [citado 2014 abril 11]. Disponible en: http://dx.doi.org/10.4067/S0717-75182004031100004.

Ohura K, Kobayashi Y, Tazawa D, Abukawa O, Sakamoto S, Tsuchiya T et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis. 2007;30:139-44.

Cifuentes Y, Arteaga C, Lonngi G, Quintero L, Bermúdez M. Hiperamonemia neonatal causada por defectos del ciclo de la urea. rev.fac.med. 2010;58:316-23.

Beck NM, Johnston JP, Lemke KS, Pogacar P, Phornphutkul C. Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). Med Health R I. 2011;94:121-3.

Licencia

Derechos de autor 2014 Revista de la Facultad de Medicina

Esta obra está bajo una licencia Creative Commons Reconocimiento 3.0 Unported.